Canonical Allele Identifier: CA8564370

Gene: HAP1

Linked Data

• dbSNP Id: rs782509605
• ExAC: 17:39883303 A / G
• gnomAD v2: 17-39883303-A-G
• gnomAD v4: 17-41727051-A-G
• MyVariant Identifiers: chr17:g.39883303A>G (hg19) ; chr17:g.41727051A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727051A>G , CM000679.2:g.41727051A>G	GRCh38
NC_000017.10:g.39883303A>G , CM000679.1:g.39883303A>G	GRCh37
NC_000017.9:g.37136829A>G	NCBI36
NG_009090.2:g.64662T>C , LRG_401:g.64662T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1367+2T>C MANE Select	ENSP00000334002.4:n.1367+2T>C
ENST00000310778.5:c.1523+2T>C	ENSP00000309392.5:n.1523+2T>C
ENST00000341193.9:c.1316+2T>C	ENSP00000343170.5:n.1316+2T>C
ENST00000347901.8:c.1367+2T>C	ENSP00000334002.4:n.1367+2T>C
ENST00000393939.6:c.1292+2T>C	ENSP00000377513.2:n.1292+2T>C
NM_001079870.1:c.1316+2T>C	NP_001073339.1:n.1316+2T>C
NM_001079871.1:c.1292+2T>C	NP_001073340.1:n.1292+2T>C
NM_177977.2:c.1367+2T>C	NP_817084.2:n.1367+2T>C
NM_001367459.1:c.1463+2T>C	NP_001354388.1:n.1463+2T>C
NM_001367460.1:c.1427+2T>C	NP_001354389.1:n.1427+2T>C
NM_001367461.1:c.1292+2T>C	NP_001354390.1:n.1292+2T>C
NM_001367462.1:c.1292+2T>C	NP_001354391.1:n.1292+2T>C
NM_177977.3:c.1367+2T>C MANE Select	NP_817084.2:n.1367+2T>C